A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17494934



Internal ID22552866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132445657..132468469hg38UCSC Ensembl
chr5:131781349..131804161hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3822813
hg1922813
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841420
Supporting Variants
Samples
Known GenesC5orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17494934
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer